Categoría: Articulos
-
Unifying mechanism explains how common cancer mutations fuel growth
A family of mutations seen in about 20% of human cancers drives malignancy by changing the accessibility of genes to a particular regulatory protein, according to a study by Weill Cornell Medicine investigators. The findings suggest new therapeutic str…
-
Three studies reveal the hidden layers between DNA and disease
In three studies published in Nature today, Australian researchers have made advances in our understanding of how genetic differences between people influence disease. The team from the Garvan Institute of Medical Research, in collaboration with the Mu…
-
Abnormal neurons are surprisingly common in the developing brain
During fetal development, the human brain generates an excess of neurons, most of which are eliminated shortly before and after birth. New research from Harvard Medical School and Boston Children’s Hospital suggests that this is a critical quality-cont…
-
Comparison of DNA- and RNA-Based Mutation Testing for Non–Small Cell Lung Cancer
Molecular testing for oncogenic mutations is the standard of care for patients with non–small cell lung cancer. While DNA sequencing effectively captures actionable substitution and indel mutations, the ability of RNA-based methods to detect these alte…
-
Epilepsy genetics in Africa: a systematic review
BackgroundWhile our understanding of genetic epilepsies is growing, data from Africa remain scant. In this study, we reviewed the profile of epilepsy genetics in Africa.MethodsWe searched for studies in PubMed, Scopus, Google Scholar, and African Journ…
-
Switching on healthy silent genes reveals new way to treat Prader-Willi syndrome
WEHI researchers have discovered a way to release a genetic ‘brake’ that silences healthy genes in Prader-Willi syndrome, opening a potential new path to treating the condition.
-
Genetic analysis of fetal corpus callosum abnormalities: a retrospective single-center cohort study
Corpus callosum abnormalities (CCA) is an anomaly that can occur in fetuses during pregnancy. This retrospective cohort study included 86 fetuses with prenatally diagnosed CCA. All cases underwent chromosomal microarray analysis (CMA), with exome seque…
-
Rapamycin rescues neuronal hyperexcitability and seizures driven by megalencephaly-causing AKT3 activation
Background Results Conclusion
-
Genetic Analysis of Fetal Corpus Callosum Abnormalities
Corpus callosum abnormalities (CCAs) are an anomaly that can occur in fetuses during pregnancy. This retrospective cohort study included 86 fetuses with prenatally diagnosed CCAs. All cases underwent chromosomal microarray analysis (CMA), with exome se…
-
15th Anniversary of Genes: Advances and Perspectives in Neurogenetics and Neurogenomics
The 15th anniversary of Genes, alongside the 10th anniversary of its initial Impact Factor, marks a significant milestone in reflecting on the remarkable advancements in the field of human molecular genetics […].